List of variants reported as pathogenic for cerebral cavernous malformation by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_194454.3(KRIT1):c.535C>T (p.Arg179Ter)	rs777198867	0.00001
NM_194454.3(KRIT1):c.1524_1528del (p.Arg510fs)	rs1057517754
NM_194454.3(KRIT1):c.1561C>T (p.Gln521Ter)	rs2131435199
NM_194454.3(KRIT1):c.1905T>A (p.Tyr635Ter)	rs140072597
NM_194454.3(KRIT1):c.857G>A (p.Trp286Ter)
NM_194454.3(KRIT1):c.953_956del (p.Asp318fs)

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